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ASAN , Esther

Last name: ASAN

First name: Esther

May 5, 2021 (v1)

Publication

Metadata-only

Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ

Krieger, Frank Elflein, Nicole Ruiz Laza, Rocío

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a childhood motoneuron disease caused by mutations in the gene encoding for IGHMBP2, an ATPase/Helicase. Paralysis of the diaphragm is an early and prominent clinical sign resulting both from denervation and myopathy. In skeletal muscles, muscle atrophy mainly results from...

Uploaded on: March 25, 2023